Cargando…
GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes
Summary: Next-generation sequencing has become a powerful tool in personalized medicine. Exomes or even whole genomes of patients suffering from rare diseases are screened for sequence variants. After filtering out common polymorphisms, the assessment and interpretation of detected personal variants...
Autores principales: | , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2012
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3463119/ https://www.ncbi.nlm.nih.gov/pubmed/22826540 http://dx.doi.org/10.1093/bioinformatics/bts462 |
_version_ | 1782245259525226496 |
---|---|
author | Kamphans, Tom Krawitz, Peter M. |
author_facet | Kamphans, Tom Krawitz, Peter M. |
author_sort | Kamphans, Tom |
collection | PubMed |
description | Summary: Next-generation sequencing has become a powerful tool in personalized medicine. Exomes or even whole genomes of patients suffering from rare diseases are screened for sequence variants. After filtering out common polymorphisms, the assessment and interpretation of detected personal variants in the clinical context is an often time-consuming effort. We have developed GeneTalk, a web-based platform that serves as an expert exchange network for the assessment of personal and potentially disease-relevant sequence variants. GeneTalk assists a clinical geneticist who is searching for information about specific sequence variants and connects this user to other users with expertise for the same sequence variant. Availability: GeneTalk is available at www.gene-talk.de. Users can login without registering in a demo account. Contact: peter.krawitz@gene-talk.de |
format | Online Article Text |
id | pubmed-3463119 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-34631192012-12-12 GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes Kamphans, Tom Krawitz, Peter M. Bioinformatics Applications Notes Summary: Next-generation sequencing has become a powerful tool in personalized medicine. Exomes or even whole genomes of patients suffering from rare diseases are screened for sequence variants. After filtering out common polymorphisms, the assessment and interpretation of detected personal variants in the clinical context is an often time-consuming effort. We have developed GeneTalk, a web-based platform that serves as an expert exchange network for the assessment of personal and potentially disease-relevant sequence variants. GeneTalk assists a clinical geneticist who is searching for information about specific sequence variants and connects this user to other users with expertise for the same sequence variant. Availability: GeneTalk is available at www.gene-talk.de. Users can login without registering in a demo account. Contact: peter.krawitz@gene-talk.de Oxford University Press 2012-10-01 2012-07-23 /pmc/articles/PMC3463119/ /pubmed/22826540 http://dx.doi.org/10.1093/bioinformatics/bts462 Text en © The Author 2012. Published by Oxford University Press. http://creativecommons.org/licenses/by/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Applications Notes Kamphans, Tom Krawitz, Peter M. GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes |
title | GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes |
title_full | GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes |
title_fullStr | GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes |
title_full_unstemmed | GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes |
title_short | GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes |
title_sort | genetalk: an expert exchange platform for assessing rare sequence variants in personal genomes |
topic | Applications Notes |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3463119/ https://www.ncbi.nlm.nih.gov/pubmed/22826540 http://dx.doi.org/10.1093/bioinformatics/bts462 |
work_keys_str_mv | AT kamphanstom genetalkanexpertexchangeplatformforassessingraresequencevariantsinpersonalgenomes AT krawitzpeterm genetalkanexpertexchangeplatformforassessingraresequencevariantsinpersonalgenomes |